rs2393938

Homo sapiens
T>C
ZNF239 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0163 (4903/29944,GnomAD)
C=0165 (4818/29118,TOPMED)
C=0225 (1127/5008,1000G)
C=0129 (498/3854,ALSPAC)
C=0126 (467/3708,TWINSUK)
chr10:43568364 (GRCh38.p7) (10q11.21)
ND
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.43568364T>C
GRCh37.p13 chr 10NC_000010.10:g.44063812T>C

Gene: ZNF239, zinc finger protein 239(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ZNF239 transcript variant 2NM_001099282.1:c.N/AIntron Variant
ZNF239 transcript variant 4NM_001099283.1:c.N/AIntron Variant
ZNF239 transcript variant 3NM_001099284.1:c.N/AIntron Variant
ZNF239 transcript variant 5NM_001324347.1:c.N/AIntron Variant
ZNF239 transcript variant 6NM_001324348.1:c.N/AIntron Variant
ZNF239 transcript variant 7NM_001324349.1:c.N/AIntron Variant
ZNF239 transcript variant 8NM_001324350.1:c.N/AIntron Variant
ZNF239 transcript variant 9NM_001324351.1:c.N/AIntron Variant
ZNF239 transcript variant 10NM_001324352.1:c.N/AIntron Variant
ZNF239 transcript variant 11NM_001324353.1:c.N/AIntron Variant
ZNF239 transcript variant 1NM_005674.2:c.N/A5 Prime UTR Variant
ZNF239 transcript variant X9XM_006718003.3:c.N/AIntron Variant
ZNF239 transcript variant X1XM_011540232.2:c.N/AIntron Variant
ZNF239 transcript variant X2XM_011540234.2:c.N/AIntron Variant
ZNF239 transcript variant X3XM_011540235.2:c.N/AIntron Variant
ZNF239 transcript variant X5XM_011540236.2:c.N/AIntron Variant
ZNF239 transcript variant X6XM_011540237.2:c.N/AIntron Variant
ZNF239 transcript variant X4XM_017016740.1:c.N/AIntron Variant
ZNF239 transcript variant X8XM_005271832.2:c.N/AGenic Upstream Transcript Variant
ZNF239 transcript variant X7XM_006718001.2:c.N/AGenic Upstream Transcript Variant
ZNF239 transcript variant X10XM_011540238.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.852C=0.148
1000GenomesAmericanSub694T=0.790C=0.210
1000GenomesEast AsianSub1008T=0.554C=0.446
1000GenomesEuropeSub1006T=0.845C=0.155
1000GenomesGlobalStudy-wide5008T=0.775C=0.225
1000GenomesSouth AsianSub978T=0.820C=0.180
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.871C=0.129
The Genome Aggregation DatabaseAfricanSub8706T=0.830C=0.170
The Genome Aggregation DatabaseAmericanSub838T=0.770C=0.230
The Genome Aggregation DatabaseEast AsianSub1612T=0.551C=0.449
The Genome Aggregation DatabaseEuropeSub18486T=0.866C=0.133
The Genome Aggregation DatabaseGlobalStudy-wide29944T=0.836C=0.163
The Genome Aggregation DatabaseOtherSub302T=0.850C=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.834C=0.165
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.874C=0.126
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs23939387.13E-06alcohol and nictotine co-dependence20158304

eQTL of rs2393938 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr10:44063812ZNF239ENSG00000196793.9T>C1.5066e-7-6254Cerebellum
Chr10:44063812ZNF239ENSG00000196793.9T>C2.3808e-4-6254Cortex
Chr10:44063812ZNF239ENSG00000196793.9T>C1.1330e-3-6254Cerebellar_Hemisphere
Chr10:44063812ZNF239ENSG00000196793.9T>C1.9226e-2-6254Caudate_basal_ganglia

meQTL of rs2393938 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr104406846344068676E0674651
chr104406868644068740E0674874
chr104406835444068429E0684542
chr104406846344068676E0684651
chr104406868644068740E0684874
chr104410290944102959E06839097
chr104410298144103031E06839169
chr104406846344068676E0694651
chr104406868644068740E0694874
chr104410290944102959E06939097
chr104410298144103031E06939169
chr104406846344068676E0714651
chr104406868644068740E0714874
chr104409100344091153E07127191
chr104410290944102959E08139097
chr104410298144103031E08139169
chr104406835444068429E0824542
chr104410290944102959E08239097
chr104410298144103031E08239169






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr104406874344070477E0674931
chr104410144444102892E06737632
chr104406874344070477E0684931
chr104410144444102892E06837632
chr104406874344070477E0694931
chr104410144444102892E06937632
chr104406874344070477E0704931
chr104410144444102892E07037632
chr104406874344070477E0714931
chr104410144444102892E07137632
chr104406874344070477E0724931
chr104410144444102892E07237632
chr104406874344070477E0734931
chr104410144444102892E07337632
chr104405321144053261E074-10551
chr104406874344070477E0744931
chr104410144444102892E07437632
chr104406874344070477E0814931
chr104410144444102892E08137632
chr104406874344070477E0824931
chr104410144444102892E08237632